Varaico: Literature-Extracted Genetic Variants

Gene:TPMT
Variant:p.I158I
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TPMT

NM_000367.5:p.I158I

Associated Papers

Population-Specific Distribution of TPMT Deficiency Variants and Ancestry Proportions in Ecuadorian Ethnic Groups: Towards Personalized Medicine.

Gallardo-Cóndor J et al.

Therapeutics and Clinical Risk Management, 2023

Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Kim B et al.

Translational and Clinical Pharmacology, 2021

Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Aboul-Soud MAM et al.

Saudi Journal of Biological Sciences, 2021

33424349 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Targeted next generation sequencing as a tool for precision medicine.

Gulilat M et al.

Bmc Medical Genomics, 2019

31159795 (PubMed )
Supplement: 12920_2019_527_MOESM1_ESM.xlsx › Table_S6

Thiopurine-induced toxicity is associated with dysfunction variant of the human molybdenum cofactor sulfurase gene (xanthinuria type II).

Stiburkova B et al.

Toxicology and Applied Pharmacology, 2018

Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening.

Ng D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27537706 (PubMed )
Supplement: NIHMS802548-supplement-Table_S4.pdf

Genes implicated in thiopurine-induced toxicity: Comparing TPMT enzyme activity with clinical phenotype and exome data in a paediatric IBD cohort.

Coelho T et al.

Scientific Reports, 2016

A Simple Method for TPMT and ITPA Genotyping Using Multiplex HRMA for Patients Treated with Thiopurine Drugs.

Skrzypczak-Zielinska M et al.

Molecular Diagnosis & Therapy, 2016

Clinically relevant genetic variants of drug-metabolizing enzyme and transporter genes detected in Thai children and adolescents with autism spectrum disorder.

Medhasi S et al.

Neuropsychiatric Disease and Treatment, 2016

High-resolution melting analysis of the TPMT gene: a study in the Polish population.

Skrzypczak-Zielinska M et al.

Genetic Testing and Molecular Biomarkers, 2013

A new thiopurine s-methyltransferase haplotype associated with intolerance to azathioprine.

Colleoni L et al.

Journal of Clinical Pharmacology, 2013

[Thiopurine S-methyltransferase gene sequence analysis of ALL children severely intolerant to 6-mercaptopurine].

Ma XL et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2012

Characterization of a novel TPMT mutation associated with azathioprine-induced myelosuppression.

de Beaumais TA et al.

British Journal of Clinical Pharmacology, 2009

Molecular analysis of thiopurine S-methyltransferase alleles in South-east Asian populations.

Chang JG et al.

Pharmacogenetics, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."